Human Gene MGLL (uc010hsp.2)
  Description: Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.
RefSeq Summary (NM_001256585): This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012].
Transcript (Including UTRs)
   Position: hg19 chr3:127,434,317-127,542,093 Size: 107,777 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr3:127,434,465-127,540,661 Size: 106,197 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:127,434,317-127,542,093)mRNA (may differ from genome)Protein (262 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MGLL_HUMAN
DESCRIPTION: RecName: Full=Monoglyceride lipase; Short=MGL; EC=3.1.1.23; AltName: Full=HU-K5; AltName: Full=Lysophospholipase homolog; AltName: Full=Lysophospholipase-like; AltName: Full=Monoacylglycerol lipase; Short=MAGL;
FUNCTION: Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (By similarity). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth.
CATALYTIC ACTIVITY: Hydrolyzes glycerol monoesters of long-chain fatty acids.
PATHWAY: Glycerolipid metabolism; triacylglycerol degradation.
SUBUNIT: Homodimer.
TISSUE SPECIFICITY: Detected in adipose tissue, lung, liver, kidney, brain and heart.
MISCELLANEOUS: Short-term inhibition causes analgesia, while long- term inhibition causes tolerance to endocannabinoids acting on brain cannabinoid receptor CNR1, and a reduction in brain cannabinoid receptor CNR1 activity (By similarity).
SIMILARITY: Belongs to the AB hydrolase superfamily. Monoacylglycerol lipase family.
SEQUENCE CAUTION: Sequence=AAB39616.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH00551.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH06230.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAG37910.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAG33116.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW79330.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW79331.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MGLL
CDC HuGE Published Literature: MGLL
Positive Disease Associations: C-Reactive Protein , Hemoglobins
Related Studies:
  1. C-Reactive Protein
    , , . [PubMed 0]
  2. Hemoglobins
    , , . [PubMed 0]
  3. Hemoglobins
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MGLL
Diseases sorted by gene-association score: cannabis dependence (11)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.52 RPKM in Adipose - Subcutaneous
Total median expression: 838.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.50187-0.463 Picture PostScript Text
3' UTR -36.40148-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000073 - AB_hydrolase_1

Pfam Domains:
PF00561 - alpha/beta hydrolase fold
PF00756 - Putative esterase
PF01764 - Lipase (class 3)
PF12146 - Serine aminopeptidase, S33
PF12697 - Alpha/beta hydrolase family

SCOP Domains:
53474 - alpha/beta-Hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3HJU - X-ray MuPIT 3JW8 - X-ray MuPIT 3JWE - X-ray MuPIT 3PE6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q99685
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004622 lysophospholipase activity
GO:0016787 hydrolase activity
GO:0042803 protein homodimerization activity
GO:0047372 acylglycerol lipase activity
GO:0052689 carboxylic ester hydrolase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006954 inflammatory response
GO:0009966 regulation of signal transduction
GO:0016042 lipid catabolic process
GO:0019369 arachidonic acid metabolic process
GO:0019433 triglyceride catabolic process
GO:0036155 acylglycerol acyl-chain remodeling
GO:0046464 acylglycerol catabolic process
GO:0050727 regulation of inflammatory response
GO:0051930 regulation of sensory perception of pain
GO:2000124 regulation of endocannabinoid signaling pathway

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0019898 extrinsic component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK304844 - Homo sapiens cDNA FLJ54260 complete cds, highly similar to Monoglyceride lipase (EC 3.1.1.23).
BC000551 - Homo sapiens monoglyceride lipase, mRNA (cDNA clone MGC:1216 IMAGE:3163689), complete cds.
U67963 - Human lysophospholipase homolog (HU-K5) mRNA, complete cds.
BC006230 - Homo sapiens monoglyceride lipase, mRNA (cDNA clone MGC:10338 IMAGE:3945191), complete cds.
AK091314 - Homo sapiens cDNA FLJ33995 fis, clone DFNES2008160, highly similar to Monoglyceride lipase (EC 3.1.1.23).
AJ270950 - Homo sapiens mRNA for monoglyceride lipase.
EU660904 - Homo sapiens monoacylglycerol lipase isoform 2 (MGLL) mRNA, complete cds, alternatively spliced.
AK315529 - Homo sapiens cDNA, FLJ96595, Homo sapiens monoglyceride lipase (MGLL), mRNA.
CU675303 - Synthetic construct Homo sapiens gateway clone IMAGE:100018850 5' read MGLL mRNA.
KJ893287 - Synthetic construct Homo sapiens clone ccsbBroadEn_02681 MGLL gene, encodes complete protein.
DQ891955 - Synthetic construct clone IMAGE:100004585; FLH181741.01X; RZPDo839G08136D monoglyceride lipase (MGLL) gene, encodes complete protein.
DQ895141 - Synthetic construct Homo sapiens clone IMAGE:100009601; FLH181737.01L; RZPDo839G08135D monoglyceride lipase (MGLL) gene, encodes complete protein.
CR456835 - Homo sapiens full open reading frame cDNA clone RZPDo834H044D for gene MGLL, monoglyceride lipase; complete cds, incl. stopcodon.
AK310874 - Homo sapiens cDNA, FLJ17916.
AL365376 - Homo sapiens EST from clone 1089844, full insert.
AY172950 - Homo sapiens lysophospholipase-like protein mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00561 - Glycerolipid metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q99685 (Reactome details) participates in the following event(s):

R-HSA-163595 2-acylglycerol + H2O -> glycerol + fatty acid
R-HSA-426043 2-AG hydrolysis to arachidonate by MAGL
R-HSA-1482543 2-MAG is hydrolyzed to fatty acid and glycerol by MGLL
R-HSA-163560 Triglyceride catabolism
R-HSA-426048 Arachidonate production from DAG
R-HSA-8979227 Triglyceride metabolism
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-1482883 Acyl chain remodeling of DAG and TAG
R-HSA-556833 Metabolism of lipids
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-416476 G alpha (q) signalling events
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1430728 Metabolism
R-HSA-109582 Hemostasis
R-HSA-388396 GPCR downstream signalling
R-HSA-1483257 Phospholipid metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AK310874, MGLL_HUMAN, NM_001256585, NP_001243514, Q6IBG9, Q96AA5, Q99685, uc010hsp.1
UCSC ID: uc010hsp.2
RefSeq Accession: NM_001256585
Protein: Q99685 (aka MGLL_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK310874.1
exon count: 6CDS single in 3' UTR: no RNA size: 1059
ORF size: 789CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 1641.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.